DNA methylation in the diagnosis of monogenic diseases

Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia M. Sirchia, Gabriella Maria Squeo, Silvia Tabano, Elisabetta Tabolacci, Isabella TorrenteMaurizio Genuardi, Giovanni Neri, Andrea Riccio

Research output: Contribution to journalReview articlepeer-review


DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone marks during gamete and embryo development. Normal methylation profiles can be modified at single or multiple loci, more frequently as consequences of genetic variants acting in cis or in trans, or in some cases stochastically or through interaction with environmental factors. For many developmental disorders, specific methylation patterns or signatures can be detected in blood DNA. The recent use of high-throughput assays investigating the whole genome has largely increased the number of diseases for which DNA methylation analysis provides information for their diagnosis. Here, we review the methylation abnormalities that have been associated with mono/oligogenic diseases, their relationship with genotype and phenotype and relevance for diagnosis, as well as the limitations in their use and interpretation of results.

Original languageEnglish
Article number355
Issue number4
Publication statusPublished - Apr 2020


  • Developmental delay/intellectual disability disorders
  • DNA methylation
  • Epi-signatures
  • Genetic testing
  • Hereditary tumors
  • High-throughput analysis
  • Imprinting disorders
  • Neuromuscular diseases
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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